43 research outputs found
Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor
Medulloblastoma is the most common pediatric brain tumor. We describe a child with tuberous sclerosis complex that developed a Group 3, myc overexpressed, metastatic medulloblastoma (MB). Considering the high risk of treatment-induced malignancies, a tailored therapy, omitting radiation, was given. Based on the evidence of mammalian target of rapamycin mTORC, mTOR Complex; RAS, Rat sarcoma; RAF, rapidly accelerated fibrosarcoma (mTOR) pathway activation in the tumor, targeted therapy was applied resulting in complete remission of disease. Although the PI3K/AKT/mTOR signaling pathway plays a role in MB, we did not find TSC1/TSC2 (TSC, tuberous sclerosis complex) mutation in our patient. We speculate that a different pathway resulting in mTOR activation is the basis of both TSC and MB in this child; H&E, haematoxilin and eosin; Gd, gadolinium
Deep neck infection complicating lymphadenitis caused by Streptococcus intermedius in an immunocompetent child
BACKGROUND: Streptococcus intermedius belongs to the Streptococcus anginosus group. It is part of the normal flora of the human mouth, but it can be etiologically associated with deep-site infections. CASE PRESENTATION: We present a case of deep neck infection complicating Streptococcus intermedius lymphadenitis, which developed in an immunocompetent 14-year-old boy with a history of recent dental work. The infection was ultimately eradicated by a combined medical and surgical approach. CONCLUSION: Our report suggests that combined medical and surgical therapy is essential for the complete resolution of deep infections caused by Streptococcus intermedius. Molecular biological techniques can be useful in guiding the diagnostic investigation and providing insight into the possibility of occult abscesses, which are particularly common with Streptococcus intermedius infections
Infantile Brain Tumors: A Review of Literature and Future Perspectives
Brain tumors in infants including those diagnosed in fetal age, newborns and under a year old represent less than 10% of pediatric nervous system tumors and present differently when compared with older children in terms of clinical traits, location and histology. The most frequent clinical finding is a macrocephaly but non-specific symptoms can also be associated. The prognosis is usually poor and depends on several factors. Surgery continues to be the main option in terms of therapeutic strategies whereas the role of chemotherapy is not yet well defined and radiotherapy is exceptionally undertaken. In view of this situation, a molecular characterization could assist in providing therapeutic options for these tumors. This review highlights the recent advances in the diagnosis and treatment of brain tumors in infants with a particular focus on the molecular landscape and future clinical applications
Deep neck infection complicating lymphadenitis caused by <it>Streptococcus intermedius </it>in an immunocompetent child
Abstract Background Streptococcus intermedius belongs to the Streptococcus anginosus group. It is part of the normal flora of the human mouth, but it can be etiologically associated with deep-site infections. Case presentation We present a case of deep neck infection complicating Streptococcus intermedius lymphadenitis, which developed in an immunocompetent 14-year-old boy with a history of recent dental work. The infection was ultimately eradicated by a combined medical and surgical approach. Conclusion Our report suggests that combined medical and surgical therapy is essential for the complete resolution of deep infections caused by Streptococcus intermedius. Molecular biological techniques can be useful in guiding the diagnostic investigation and providing insight into the possibility of occult abscesses, which are particularly common with Streptococcus intermedius infections.</p
MRI features as a helpful tool to predict the molecular subgroups of medulloblastoma: state of the art
Medulloblastoma is the most common malignant pediatric brain tumor. Medulloblastoma should not be viewed as a single disease, but as a heterogeneous mixture of various subgroups with distinct characteristics. Based on genomic profiles, four distinct molecular subgroups are identified: Wingless (WNT), Sonic Hedgehog (SHH), Group 3 and Group 4. Each of these subgroups are associated with specific genetic aberrations, typical age of onset as well as survival prognosis. Magnetic resonance imaging (MRI) is performed for all patients with brain tumors, and has a key role in the diagnosis, surgical guidance and follow up of patients with medulloblastoma. Several studies indicate MRI as a promising tool for early detection of medulloblastoma subgroups. The early identification of the subgroup can influence the extent of surgical resection, radiotherapy and chemotherapy targeted treatments. In this article, we review the state of the art in MRI-facilitated medulloblastoma subgrouping, with a summary of the main MRI features in medulloblastoma and a brief discussion on molecular characterization of medulloblastoma subgroups. The main focus of the article is MRI features that correlate with medulloblastoma subtypes, as well as features suggestive of molecular subgroups. Finally, we briefly discuss the latest trends in MRI studies and latest developments in molecular characterization
Role of {[I-131]metaiodobeuzylguanidine (MIBG) in the treatment of neuroblastoma: A review}
For years there has been no substantial improvement in survival rates of
children with advanced neuroblastoma (NB). NB is a radiosensitive tumor.
Since promising results are obtained with aggressive chemotherapy, it
might be expected that even better results could be obtained from a high
radiation dosage. But delivery of high radiation doses is limited by
host intolerance. {[I-131]Metaiodobeuzylguanidine ([I-131]MIBG), a
radioiodinated aralkylguanidine, is capable of competing with
norepinephrine for uptake into neuroadrenergic tissue and derived
tumors. Targeted radiotherapy with elevated doses has been pioneered by
several groups, as a high dose of radioactivity can be selectively
delivered to tumor cells, with an acceptable systemic toxicity. We
briefly review here the latest research achievements and the progress
that has been made with the use of this new treatment modality in
patients with advanced NB. Encouraging results have been obtained with
[I-131]MIBG in patients with resistant disease; however, a promise for
the future may lie in tentative therapeutic approaches with
[I-131]MIBG used at the time of diagnosis. The toxicity of
[I-131]MIBG de novo contrasted with previous experience in
[I-131]MIBG therapy in pretreated patients with relapses, since bone
marrow depression did not appear to be very significant. We have
recently investigated a new therapeutic approach to stage IV NB using a
combination of [I-131]MIBG and cisplatin. Our results, although
preliminary, suggest that this combined therapy is most effective in
pretreated stage IV NB. However, relatively severe and long-lasting
hematologic toxicity has been observed. We are at present trying to
reduce the possible toxic synergism between cisplatin and [I-131]MIBG.
Th, real therapeutic potential of radioiodinated MIBG in patients with
NE has not yet fully explored. Future improvements may result from the
contribution of further clinical and research investigations.